Structural eye disease
Gene: ELOVL4EnsemblGeneIds (GRCh38): ENSG00000118402
EnsemblGeneIds (GRCh37): ENSG00000118402
OMIM: 605512, Gene2Phenotype
ELOVL4 is in 14 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stargardt disease 3; 600110
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stargardt disease 3, 600110
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Stargardt disease 3, 600110
- Eye Disorders
- OMIM
- 605512
- Clinvar variants
- Variants in ELOVL4
- Penetrance
- None
- Panels with this gene
-
- Structural eye disease
- Hereditary ataxia
- Fetal anomalies
- Glaucoma (developmental)
- Adult onset neurodegenerative disorder
- Palmoplantar keratoderma and erythrokeratodermas
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Ichthyosis and erythrokeratoderma
- Hereditary ataxia with onset in adulthood
- Palmoplantar keratodermas
- Ataxia and cerebellar anomalies - narrow panel
- Retinal disorders
- DDG2P
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ELOVL4. Mode of inheritance for gene ELOVL4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Stargardt disease 3, 600110 for gene: ELOVL4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ELOVL4 was added gene: ELOVL4 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ELOVL4 was set to Phenotypes for gene: ELOVL4 were set to Eye Disorders